SAPCD1 (suppressor APC domain containing 1)

Gene: SAPCD1 (suppressor APC domain containing 1) Homo sapiens

Analyze

Symbol:

SAPCD1

Name:

suppressor APC domain containing 1

RGD ID:

1352760

HGNC Page

HGNC:13938

Description:

ASSOCIATED WITH genetic disease; proteasome-associated autoinflammatory syndrome 1; INTERACTS WITH 2,2',5,5'-tetrachlorobiphenyl; 2-hydroxypropanoic acid; acrylamide

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C6orf26; DKFZp434C1615; NG23; protein G7d; suppressor APC domain-containing protein 1

RGD Orthologs

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	31,762,656 - 31,764,850 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	31,762,656 - 31,764,850 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	31,730,433 - 31,732,627 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	31,838,752 - 31,840,606 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	6	33,329,018 - 33,330,872 (+)	NCBI		Celera
Cytogenetic Map	6	p21.33	NCBI
HuRef	6	31,517,201 - 31,519,056 (+)	NCBI		HuRef
CHM1_1	6	31,732,896 - 31,734,750 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	31,615,703 - 31,617,897 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

proteasome-associated autoinflammatory syndrome 1 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1-naphthyl isothiocyanate (ISO)

2,2',5,5'-tetrachlorobiphenyl (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-hydroxypropanoic acid (EXP)

acrylamide (EXP)

benzo[a]pyrene (EXP)

benzo[a]pyrene diol epoxide I (EXP)

bis(2-ethylhexyl) phthalate (EXP)

butanal (EXP)

cadmium dichloride (ISO)

cyclosporin A (EXP)

dibutyl phthalate (ISO)

endosulfan (ISO)

rac-lactic acid (EXP)

sodium arsenite (EXP,ISO)

succimer (ISO)

sunitinib (EXP)

tetrachloromethane (ISO)

trichostatin A (EXP)

triptonide (ISO)

tungsten (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Molecular Function

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:2477242	PMID:8812450	PMID:12477932	PMID:14574404	PMID:14656967	PMID:19851445	PMID:22087225	PMID:26186194	PMID:28514442	PMID:28986522	PMID:32296183	PMID:33961781

Genomics

Comparative Map Data

SAPCD1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	31,762,656 - 31,764,850 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	31,762,656 - 31,764,850 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	31,730,433 - 31,732,627 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	31,838,752 - 31,840,606 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	6	33,329,018 - 33,330,872 (+)	NCBI		Celera
Cytogenetic Map	6	p21.33	NCBI
HuRef	6	31,517,201 - 31,519,056 (+)	NCBI		HuRef
CHM1_1	6	31,732,896 - 31,734,750 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	6	31,615,703 - 31,617,897 (+)	NCBI		T2T-CHM13v2.0

Sapcd1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	35,244,935 - 35,247,600 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	35,244,935 - 35,246,992 (-)	Ensembl		GRCm39 Ensembl
GRCm38	17	35,025,959 - 35,028,557 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	35,025,959 - 35,028,016 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	35,162,904 - 35,164,961 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	34,633,553 - 34,635,972 (-)	NCBI		MGSCv36	mm8
Celera	17	38,122,185 - 38,124,257 (-)	NCBI		Celera
Cytogenetic Map	17	B1	NCBI
cM Map	17	18.56	NCBI

Sapcd1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	20	3,798,124 - 3,800,422 (+)	NCBI		GRCr8
mRatBN7.2	20	3,793,980 - 3,795,767 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	20	3,793,967 - 3,795,790 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	20	4,493,527 - 4,495,296 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	20	3,855,582 - 3,857,351 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	20	4,393,487 - 4,395,256 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	20	5,018,264 - 5,020,375 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	20	5,018,264 - 5,020,150 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	20	7,091,280 - 7,093,208 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	20	3,862,654 - 3,864,441 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	20	3,862,880 - 3,864,623 (+)	NCBI
Celera	20	4,230,730 - 4,232,517 (-)	NCBI		Celera
Cytogenetic Map	20	p12	NCBI

Sapcd1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955437	297,644 - 299,220 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955437	297,605 - 299,242 (+)	NCBI	ChiLan1.0	ChiLan1.0

SAPCD1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	5	46,239,423 - 46,241,581 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	42,201,545 - 42,203,085 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	31,423,704 - 31,425,719 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	32,311,318 - 32,313,411 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	32,311,318 - 32,313,406 (+)	Ensembl	panpan1.1		panPan2

SAPCD1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	12	1,243,489 - 1,245,476 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	12	1,243,974 - 1,245,429 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	12	1,380,013 - 1,382,521 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	12	1,386,741 - 1,389,249 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	12	1,387,226 - 1,388,682 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	12	1,245,965 - 1,248,472 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	12	1,313,127 - 1,315,635 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	12	1,381,060 - 1,383,565 (+)	NCBI		UU_Cfam_GSD_1.0

Sapcd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404946	35,784,149 - 35,789,598 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936727	1,775,618 - 1,777,048 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936727	1,772,656 - 1,777,202 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SAPCD1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	17	40,258,684 - 40,261,092 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	17	40,259,121 - 40,260,597 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666044	31,675,242 - 31,677,350 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Sapcd1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624754	24,452,429 - 24,453,725 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in SAPCD1
10 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_025258.2(VWA7):c.1484G>A (p.Gly495Glu)	single nucleotide variant	Malignant melanoma [RCV000067290]	Chr6:31769037 [GRCh38] Chr6:31736814 [GRCh37] Chr6:31844793 [NCBI36] Chr6:6p21.33	not provided
NM_001039651.2(SAPCD1):c.529C>T (p.Arg177Cys)	single nucleotide variant	Inborn genetic diseases [RCV003184335]	Chr6:31764523 [GRCh38] Chr6:31732300 [GRCh37] Chr6:6p21.33	uncertain significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	copy number gain	See cases [RCV000143497]	Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3	pathogenic
GRCh37/hg19 6p21.33(chr6:31384577-31902308)x3	copy number gain	See cases [RCV000448679]	Chr6:31384577..31902308 [GRCh37] Chr6:6p21.33	uncertain significance
NM_001039651.2(SAPCD1):c.296C>T (p.Pro99Leu)	single nucleotide variant	not specified [RCV000455422]	Chr6:31764104 [GRCh38] Chr6:31731881 [GRCh37] Chr6:6p21.33	benign
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)x3	copy number gain	not provided [RCV000745592]	Chr6:28130359..32108367 [GRCh37] Chr6:6p22.1-21.32	uncertain significance
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	copy number gain	not provided [RCV000767714]	Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1	pathogenic
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	copy number gain	not provided [RCV001005791]	Chr6:31036397..34088832 [GRCh37] Chr6:6p21.33-21.31	likely pathogenic
NC_000006.11:g.(?_30695893)_(31937492_?)dup	duplication	not provided [RCV003107453]	Chr6:30695893..31937492 [GRCh37] Chr6:6p21.33	uncertain significance
NM_001039651.2(SAPCD1):c.359C>T (p.Pro120Leu)	single nucleotide variant	Inborn genetic diseases [RCV003293748]	Chr6:31764273 [GRCh38] Chr6:31732050 [GRCh37] Chr6:6p21.33	likely benign
GRCh37/hg19 6p21.33(chr6:31384577-31902308)	copy number gain	not specified [RCV002053564]	Chr6:31384577..31902308 [GRCh37] Chr6:6p21.33	uncertain significance
NC_000006.11:g.(?_30695893)_(36953949_?)dup	duplication	Proteasome-associated autoinflammatory syndrome 1 [RCV003113679]	Chr6:30695893..36953949 [GRCh37] Chr6:6p21.33-21.2	uncertain significance
NM_001039651.2(SAPCD1):c.379A>G (p.Ser127Gly)	single nucleotide variant	Inborn genetic diseases [RCV003276123]	Chr6:31764293 [GRCh38] Chr6:31732070 [GRCh37] Chr6:6p21.33	likely benign
NM_001039651.2(SAPCD1):c.80G>A (p.Arg27His)	single nucleotide variant	Inborn genetic diseases [RCV003001263]	Chr6:31763134 [GRCh38] Chr6:31730911 [GRCh37] Chr6:6p21.33	likely benign
NM_001039651.2(SAPCD1):c.245C>A (p.Ala82Asp)	single nucleotide variant	Inborn genetic diseases [RCV002763068]	Chr6:31763545 [GRCh38] Chr6:31731322 [GRCh37] Chr6:6p21.33	uncertain significance
NM_001039651.2(SAPCD1):c.488T>C (p.Met163Thr)	single nucleotide variant	Inborn genetic diseases [RCV002873859]	Chr6:31764482 [GRCh38] Chr6:31732259 [GRCh37] Chr6:6p21.33	likely benign
NM_001039651.2(SAPCD1):c.370A>G (p.Asn124Asp)	single nucleotide variant	Inborn genetic diseases [RCV002792547]	Chr6:31764284 [GRCh38] Chr6:31732061 [GRCh37] Chr6:6p21.33	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	863
Count of miRNA genes:	492
Interacting mature miRNAs:	562
Transcripts:	ENST00000415669, ENST00000425424, ENST00000433778, ENST00000494299
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

SHGC-58848

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	31,731,996 - 31,732,236	UniSTS	GRCh37
Build 36	6	31,839,975 - 31,840,215	RGD	NCBI36
Celera	6	33,330,241 - 33,330,481	RGD
Cytogenetic Map	6	p21.33	UniSTS
HuRef	6	31,518,424 - 31,518,664	UniSTS
TNG Radiation Hybrid Map	6	17113.0	UniSTS

MSH5_7832

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	31,732,229 - 31,732,736	UniSTS	GRCh37
Build 36	6	31,840,208 - 31,840,715	RGD	NCBI36
Celera	6	33,330,474 - 33,330,981	RGD
HuRef	6	31,518,657 - 31,519,165	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

405

436

335

1839

131

745

777

311

177

1149

Low

2005

2844

1175

543

1537

394

2436

1988

2920

250

625

1207

162

1027

1585

Below cutoff

107

103

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001039651	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF134726	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI765046	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL662834	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL662899	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BA000025	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC137541	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC137542	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU162048	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX248133	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR759787	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR759915	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR925765	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500624	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500625	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500626	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KY500627	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000415669 ⟹ ENSP00000411948

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,762,656 - 31,764,850 (+)	Ensembl

RefSeq Acc Id:

ENST00000425424 ⟹ ENSP00000413372

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,763,049 - 31,764,828 (+)	Ensembl

RefSeq Acc Id:

ENST00000494299

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	31,763,620 - 31,764,299 (+)	Ensembl

RefSeq Acc Id:

NM_001039651 ⟹ NP_001034740

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	31,762,656 - 31,764,850 (+)	NCBI
GRCh37	6	31,730,773 - 31,732,627 (+)	RGD
Build 36	6	31,838,752 - 31,840,606 (+)	NCBI Archive
Celera	6	33,329,018 - 33,330,872 (+)	RGD
HuRef	6	31,517,201 - 31,519,056 (+)	RGD
CHM1_1	6	31,732,896 - 31,734,750 (+)	NCBI
T2T-CHM13v2.0	6	31,615,703 - 31,617,897 (+)	NCBI

Sequence:

show sequence

GGAGGGACCAGCCCGGGCTGCACCAGTGGGAGTGGCTCCACCCTTCCCACCTCAGAGCCATGGG
GAGCCAGGGCTCTGGCGGGGTGCCCTTGGTGCAGGCTCCCTACACAGTCCTGCTGCTGCCGCTG
GGGACAAGCCGCCAAGACCCAGGGGCCCAGAGCTTCTTCCTTTGGCTACGCAGGATGCAGGCTC
TGGAGAGAGAACAGGATGCCCTGTGGCAGGGTCTGGAGCTGCTACAGCATGGCCAGGCCTGGTT
TGAAGACCATCTGAGGGAGGCACAGCGACAGCAGCTGCATCTAGGGGCCCTTGGTGAGAATTTT
CTAACAGATTTACACTCAGAGCCTGGTCGCCCCCCGTTAGCCCAGATTCAAAAGGTGAACATCT
GTTTGCAGAATCTGATTCATGAGAAGTTCTCCCCAAGTCCACTGAACAAGGCTAGTTCCTGCAC
CACCCAGGATTCAAAGGAAAGACGAAGGGAGCAGAACTTGTGGCAGCAACAGGAGTTGTCAAGG
CAGCAGAAAGGAGTCACCCAGCCAAAGGAGGAGATGGCTCAGCGGGGCTGCACCAAGGGGCCAA
GAGGCCCTACCCGTGTCTAAACCCTCCTCTCACTCCCCTAAGCCTGGTGAAAGAGTCAGAAGCC
CCAGGCTCCTTTTTCTGTTTCTTAACTCAACAGCTAAAAAATGGCTCCAGGTAGTGAGTCAATG
AAGTTCAGACATGTTGGTGTAAAGTTTCTCCTCTGCTCCTGAAAACTTCATCTTCTTGGTGTCT
CATGTCCTCATTCTCCCCTATATGACATGCAAAAACGATCTTTCTTTGAAATCCCTCTGGGAAG
AAGCATGTTTATTGAAACTGTCCTTCAGCCTTAAATACAAAAATAAAACTGAAACTGCTCCAGA
AAGCAGCTTTCTCCAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001034740	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD21821	(Get FASTA)	NCBI Sequence Viewer
	AAI37542	(Get FASTA)	NCBI Sequence Viewer
	AAI37543	(Get FASTA)	NCBI Sequence Viewer
	AQY77096	(Get FASTA)	NCBI Sequence Viewer
	AQY77097	(Get FASTA)	NCBI Sequence Viewer
	AQY77098	(Get FASTA)	NCBI Sequence Viewer
	AQY77099	(Get FASTA)	NCBI Sequence Viewer
	BAB63305	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000372692.2
	ENSP00000387942.2
	ENSP00000403346.2
	ENSP00000403687.2
	ENSP00000404105.2
	ENSP00000405513.2
	ENSP00000410585.1
	ENSP00000411948
	ENSP00000411948.2
	ENSP00000412154.1
	ENSP00000413372.1
	ENSP00000414539.1
	ENSP00000414654.1
	ENSP00000447344.1
	ENSP00000448208.1
	ENSP00000450257.1
GenBank Protein	Q5SSQ6	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001034740 ⟸ NM_001039651
- UniProtKB:	A0A1U9X8I8 (UniProtKB/TrEMBL), A0A1U9X8H2 (UniProtKB/TrEMBL), A0A1U9X8H9 (UniProtKB/TrEMBL), A0A1U9X8I1 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGSQGSGGVPLVQAPYTVLLLPLGTSRQDPGAQSFFLWLRRMQALEREQDALWQGLELLQHGQA WFEDHLREAQRQQLHLGALGENFLTDLHSEPGRPPLAQIQKVNICLQNLIHEKFSPSPLNKASS CTTQDSKERRREQNLWQQQELSRQQKGVTQPKEEMAQRGCTKGPRGPTRV hide sequence

RefSeq Acc Id:

ENSP00000413372 ⟸ ENST00000425424

RefSeq Acc Id:

ENSP00000411948 ⟸ ENST00000415669

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q5SSQ6-F1-model_v2	AlphaFold	Q5SSQ6	1-148	view protein structure

Promoters

RGD ID:

6872634

Promoter ID:

EPDNEW_H9482

Type:

initiation region

Name:

SAPCD1_1

Description:

suppressor APC domain containing 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H9483 EPDNEW_H9484 EPDNEW_H9485 EPDNEW_H9486

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	31,763,049 - 31,763,109	EPDNEW

RGD ID:

6872636

Promoter ID:

EPDNEW_H9483

Type:

initiation region

Name:

SAPCD1_4

Description:

suppressor APC domain containing 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H9482 EPDNEW_H9484 EPDNEW_H9485 EPDNEW_H9486

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	31,763,528 - 31,763,588	EPDNEW

RGD ID:

6872638

Promoter ID:

EPDNEW_H9484

Type:

initiation region

Name:

SAPCD1_3

Description:

suppressor APC domain containing 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H9482 EPDNEW_H9483 EPDNEW_H9485 EPDNEW_H9486

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	31,763,914 - 31,763,974	EPDNEW

RGD ID:

6872640

Promoter ID:

EPDNEW_H9485

Type:

initiation region

Name:

SAPCD1_2

Description:

suppressor APC domain containing 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H9482 EPDNEW_H9483 EPDNEW_H9484 EPDNEW_H9486

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	31,764,161 - 31,764,221	EPDNEW

RGD ID:

6872642

Promoter ID:

EPDNEW_H9486

Type:

initiation region

Name:

SAPCD1_5

Description:

suppressor APC domain containing 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H9482 EPDNEW_H9483 EPDNEW_H9484 EPDNEW_H9485

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	31,764,414 - 31,764,474	EPDNEW

RGD ID:

6803871

Promoter ID:

HG_KWN:52987

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000344675, OTTHUMT00000076231, OTTHUMT00000076232, OTTHUMT00000268169, UC003NXA.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	6	31,837,126 - 31,839,382 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:13938	AgrOrtholog
COSMIC	SAPCD1	COSMIC
Ensembl Genes	ENSG00000227074	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000227861	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000228727	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
	ENSG00000229176	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000234951	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000237918	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000383205.6	UniProtKB/TrEMBL
	ENST00000415669	ENTREZGENE
	ENST00000415669.4	UniProtKB/Swiss-Prot
	ENST00000425286.5	UniProtKB/TrEMBL
	ENST00000425424.4	UniProtKB/Swiss-Prot
	ENST00000427166.5	UniProtKB/TrEMBL
	ENST00000436320.5	UniProtKB/TrEMBL
	ENST00000443153.5	UniProtKB/Swiss-Prot
	ENST00000447852.3	UniProtKB/Swiss-Prot
	ENST00000449857.3	UniProtKB/Swiss-Prot
	ENST00000449925.5	UniProtKB/TrEMBL
	ENST00000453534.5	UniProtKB/Swiss-Prot
	ENST00000457185.4	UniProtKB/Swiss-Prot
	ENST00000547662.3	UniProtKB/Swiss-Prot
	ENST00000548987.3	UniProtKB/Swiss-Prot
	ENST00000551778.3	UniProtKB/Swiss-Prot
GTEx	ENSG00000227074	GTEx
	ENSG00000227861	GTEx
	ENSG00000228727	GTEx
	ENSG00000229176	GTEx
	ENSG00000234951	GTEx
	ENSG00000237918	GTEx
HGNC ID	HGNC:13938	ENTREZGENE
Human Proteome Map	SAPCD1	Human Proteome Map
InterPro	Suppressor_APCD_1/2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:401251	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	401251	ENTREZGENE
PANTHER	PTHR14907	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SUPPRESSOR APC DOMAIN-CONTAINING PROTEIN 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Suppressor_APC	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134974558	PharmGKB
UniProt	A0A0G2JH42_HUMAN	UniProtKB/TrEMBL
	A0A1U9X8H2	ENTREZGENE, UniProtKB/TrEMBL
	A0A1U9X8H9	ENTREZGENE, UniProtKB/TrEMBL
	A0A1U9X8I1	ENTREZGENE, UniProtKB/TrEMBL
	A0A1U9X8I8	ENTREZGENE, UniProtKB/TrEMBL
	Q5SSQ6	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	A2ABF2	UniProtKB/Swiss-Prot
	A2ABS9	UniProtKB/Swiss-Prot
	Q9Y335	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2011-12-20	SAPCD1	suppressor APC domain containing 1	C6orf26	chromosome 6 open reading frame 26	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar